Hereditary Breast Cancer in Underrepresented Populations: From Germline Genomics to Equitable Clinical Implementation

Hereditary breast cancer is driven in part by pathogenic germline variants in BRCA1, BRCA2, and other cancer susceptibility genes. However, much of the evidence supporting variant interpretation, penetrance estimates, risk prediction, testing criteria, and clinical management has been generated in populations of predominantly European ancestry. Populations from Latin America and Africa, along with other regions historically underrepresented in genomic research (including Indigenous, Asian, and highly admixed populations), remain insufficiently characterized. This evidence gap can reduce diagnostic yield, increase uncertainty surrounding variants of uncertain significance, and limit the portability of current risk models and clinical guidelines.This Research Topic brings together germline variant discovery, clinical interpretation, functional characterization, molecular diagnosis, and equitable implementation as interconnected stages of the same translational continuum. With Latin America and Africa as central regions of focus, the collection will also welcome relevant contributions from other underrepresented populations that provide comparative or transferable evidence. To capture the breadth and depth of current research, we welcome articles including but not limited to the following topics:• Germline variant spectra, recurrent or founder variants, structural variants, and penetrance estimates in underrepresented populations.• Multigene panel, whole-exome, and whole-genome sequencing approaches for hereditary breast cancer diagnosis.• Variant interpretation and reclassification, including functional assays, transcriptomic or splicing evidence, and approaches to resolving variants of uncertain significance.• Population-specific genomic resources and the performance or recalibration of hereditary cancer risk-prediction models across diverse ancestries.• Clinical utility, cascade testing, genetic counseling, and risk-reducing care.• Barriers and implementation models affecting equitable access to molecular diagnosis and genetic services.• Health-system, financing, policy, geographic, and sociocultural factors shaping hereditary cancer care.We invite Original Research, Systematic Reviews, Brief Research Reports, and Policy and Practice Reviews that advance the science or the equitable delivery of hereditary breast cancer care. Topic editors: Brehima Diakite, Sebastian Morales-Pison, Mohan Narasimhamurthy Source: https://www.frontiersin.org/research-topics/85633/hereditary-breast-cancer-in-underrepresented-populations-from-germline-genomics-to-equitable-clinical-implementation